Canonical Allele Identifier: CA4710676

Gene: ERLIN2

Linked Data

• ClinVar Variation Id: 435088
• ClinVar RCV Id: RCV000501052 ; RCV002056846 ; RCV002527248
• dbSNP Id: rs778852699
• ExAC: 8:37602081 CCT / C
• gnomAD v2: 8-37602081-CCT-C
• gnomAD v3: 8-37744563-CCT-C
• gnomAD v4: 8-37744563-CCT-C
• MyVariant Identifiers: chr8:g.37602085_37602086del (hg19) ; chr8:g.37602082_37602083del (hg19) ; chr8:g.37744567_37744568del (hg38) ; chr8:g.37744565_37744566del (hg38) ; chr8:g.37744564_37744565del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37744567_37744568del , CM000670.2:g.37744567_37744568del	GRCh38
NC_000008.10:g.37602085_37602086del , CM000670.1:g.37602085_37602086del	GRCh37
NC_000008.9:g.37721243_37721244del	NCBI36
NG_032059.1:g.12989_12990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519638.3:c.299-4_299-3del MANE Select	ENSP00000428112.1:n.299-4_299-3del
ENST00000521993.3:n.228-4_228-3del
ENST00000648919.1:c.299-4_299-3del	ENSP00000497100.1:n.299-4_299-3del
ENST00000276461.9:c.299-4_299-3del	ENSP00000276461.5:n.299-4_299-3del
ENST00000335171.10:c.299-4_299-3del	ENSP00000335220.6:n.299-4_299-3del
ENST00000397228.6:c.299-4_299-3del	ENSP00000380405.2:n.299-4_299-3del
ENST00000518526.5:c.170-4_170-3del	ENSP00000429229.1:n.170-4_170-3del
ENST00000518586.5:c.299-4_299-3del	ENSP00000427847.1:n.299-4_299-3del
ENST00000519638.1:c.299-4_299-3del	ENSP00000428112.1:n.299-4_299-3del
ENST00000521644.5:c.299-4_299-3del	ENSP00000429621.1:n.299-4_299-3del
ENST00000521993.2:n.192-4_192-3del
ENST00000523107.5:c.299-4_299-3del	ENSP00000473292.1:n.299-4_299-3del
ENST00000523887.5:c.299-4_299-3del	ENSP00000429903.1:n.299-4_299-3del
NM_001003790.3:c.299-4_299-3del	NP_001003790.1:n.299-4_299-3del
NM_001003791.2:c.299-4_299-3del	NP_001003791.1:n.299-4_299-3del
NM_007175.6:c.299-4_299-3del	NP_009106.1:n.299-4_299-3del
XM_005273392.1:c.299-4_299-3del	XP_005273449.1:n.299-4_299-3del
XM_006716280.1:c.53-4_53-3del	XP_006716343.1:n.53-4_53-3del
NM_001362878.1:c.299-4_299-3del	NP_001349807.1:n.299-4_299-3del
NM_001362880.1:c.299-4_299-3del	NP_001349809.1:n.299-4_299-3del
NM_007175.7:c.299-4_299-3del	NP_009106.1:n.299-4_299-3del
XM_005273392.3:c.299-4_299-3del	XP_005273449.1:n.299-4_299-3del
XM_006716280.2:c.53-4_53-3del	XP_006716343.1:n.53-4_53-3del
XM_017013000.1:c.299-4_299-3del	XP_016868489.1:n.299-4_299-3del
XM_024447058.1:c.299-4_299-3del	XP_024302826.1:n.299-4_299-3del
NM_001003790.4:c.299-4_299-3del	NP_001003790.1:n.299-4_299-3del
NM_001003791.3:c.299-4_299-3del	NP_001003791.1:n.299-4_299-3del
NM_001362878.2:c.299-4_299-3del	NP_001349807.1:n.299-4_299-3del
NM_001362880.2:c.299-4_299-3del	NP_001349809.1:n.299-4_299-3del
NM_007175.8:c.299-4_299-3del MANE Select	NP_009106.1:n.299-4_299-3del